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The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis
Author(s) -
Milunsky A.,
Konialis C.,
Shim S. H.,
Maher T. A.,
Spengos K.,
Ito M.,
Pangalos C.
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1302
Subject(s) - cadasil , leukoencephalopathy , medicine , dementia , prenatal diagnosis , pathology , vascular dementia , stroke (engine) , fetus , pediatrics , pregnancy , genetics , biology , disease , mechanical engineering , engineering
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an important cause of hereditary stroke. Mutations in the Notch3 gene are clearly causally linked to this progressive vascular disorder. Cerebral ischemic attacks, cognitive decline, strokes, and vascular dementia constitute the major manifestations of this disorder. This report details the prenatal detection of a Notch3 mutation in the fetus of a couple where the father had a known mutation in this gene. This is the first report of a prenatal diagnosis of CADASIL, and another example of a serious, highly penetrant, and relentlessly progressive degenerative genetic disorder presenting decades after birth and for which prenatal diagnosis is an option. Copyright © 2005 John Wiley & Sons, Ltd.